{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA189323",
  "communityStandardTitle": [
    "NM_000051.4(ATM):c.7359T>G (p.Arg2453=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=183389[alleleid]",
        "alleleId": 183389,
        "preferredName": "NM_000051.4(ATM):c.7359T>G (p.Arg2453=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/184569",
        "RCV": [
          "RCV000163843",
          "RCV000195799",
          "RCV001088026"
        ],
        "variationId": 184569
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108200992T>G?assembly=hg19",
        "id": "chr11:g.108200992T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.108330265T>G?assembly=hg38",
        "id": "chr11:g.108330265T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786201541",
        "rs": 786201541
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108200992-T-G?dataset=gnomad_r2_1",
        "id": "11-108200992-T-G",
        "variant": "11:108200992 T / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108330265-T-G?dataset=gnomad_r3",
        "id": "11-108330265-T-G",
        "variant": "11:108330265 T / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-108330265-T-G?dataset=gnomad_r4",
        "id": "11-108330265-T-G",
        "variant": "11:108330265 T / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 108330265,
          "referenceAllele": "T",
          "start": 108330264
        }
      ],
      "hgvs": [
        "NC_000011.10:g.108330265T>G",
        "CM000673.2:g.108330265T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 108200992,
          "referenceAllele": "T",
          "start": 108200991
        }
      ],
      "hgvs": [
        "NC_000011.9:g.108200992T>G",
        "CM000673.1:g.108200992T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 107706202,
          "referenceAllele": "T",
          "start": 107706201
        }
      ],
      "hgvs": [
        "NC_000011.8:g.107706202T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 112434,
          "referenceAllele": "T",
          "start": 112433
        }
      ],
      "hgvs": [
        "NG_009830.1:g.112434T>G",
        "LRG_135:g.112434T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001667"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 144568,
          "referenceAllele": "A",
          "start": 144567
        }
      ],
      "hgvs": [
        "NG_054724.1:g.144568A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617495"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7841,
          "referenceAllele": "T",
          "start": 7840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.7:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7487,
          "referenceAllele": "T",
          "start": 7486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000713593.1:c.*6830T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518889.1:n.*6830T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7665,
          "referenceAllele": "T",
          "start": 7664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.9:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1778,
          "referenceAllele": "T",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000525056.2:n.1778T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 316,
          "referenceAllele": "T",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000525537.3:n.316T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 196,
          "referenceAllele": "T",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000638786.2:n.196T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2116,
          "referenceAllele": "T",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682286.1:n.2116T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827281"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1777,
          "referenceAllele": "T",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000682302.1:n.1777T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827296"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8843,
          "referenceAllele": "T",
          "start": 8842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683174.1:n.8843T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2583,
          "referenceAllele": "T",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000683524.1:n.2583T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828498"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3073,
          "referenceAllele": "T",
          "start": 3072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684152.1:n.3073T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829110"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1822,
          "referenceAllele": "T",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000684447.1:n.1822T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7210,
          "referenceAllele": "T",
          "start": 7209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000527805.6:c.*2423T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435747.2:n.*2423T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7264,
          "referenceAllele": "T",
          "start": 7263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675595.1:c.*2494T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502563.1:n.*2494T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7509,
          "referenceAllele": "T",
          "start": 7508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000675843.1:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501606.1:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.7359T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.7359T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Arg2453="
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Arg2453="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7744,
          "referenceAllele": "T",
          "start": 7743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000278616.8:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000278616.4:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252814"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7548,
          "referenceAllele": "T",
          "start": 7547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000452508.6:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388058.2:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3574,
          "referenceAllele": "T",
          "start": 3573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000524792.5:n.3574T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350897"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 21193,
          "referenceAllele": "A",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 21194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "ENST00000525729.5:c.641-21194A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433395.1:n.641-21194A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351707"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2763,
          "referenceAllele": "T",
          "start": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "ENST00000533690.5:n.2763T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825035475",
      "coordinates": [
        {
          "allele": "G",
          "end": 7744,
          "referenceAllele": "T",
          "start": 7743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.3:c.7359T>G",
        "LRG_135t1:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7567,
          "referenceAllele": "T",
          "start": 7566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271561.3:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271618.2:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7876,
          "referenceAllele": "T",
          "start": 7875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.3:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7499,
          "referenceAllele": "T",
          "start": 7498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.2:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072818"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3384,
          "referenceAllele": "T",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.1:c.3315T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Arg1105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7587,
          "referenceAllele": "T",
          "start": 7586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.1:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8270,
          "referenceAllele": "T",
          "start": 8269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542841.1:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541143.1:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7314,
          "referenceAllele": "T",
          "start": 7313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.1:c.7194T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Arg2398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8076,
          "referenceAllele": "T",
          "start": 8075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.1:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109772"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6860,
          "referenceAllele": "T",
          "start": 6859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.1:c.6315T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Arg2105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109773"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6207,
          "referenceAllele": "T",
          "start": 6206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.1:c.6051T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Arg2017="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2470,
          "referenceAllele": "T",
          "start": 2469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542847.1:c.2430T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541149.1:p.Arg810="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 21193,
          "referenceAllele": "A",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 21194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.1:c.641-21194A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.641-21194A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 837,
          "endIntronDirection": "+",
          "endIntronOffset": 4955,
          "referenceAllele": "A",
          "start": 837,
          "startIntronDirection": "+",
          "startIntronOffset": 4954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.1:c.*38+4955A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.*38+4955A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827577602",
      "coordinates": [
        {
          "allele": "G",
          "end": 7832,
          "referenceAllele": "T",
          "start": 7831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.1:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7878,
          "referenceAllele": "T",
          "start": 7877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_005271562.5:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271619.2:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7511,
          "referenceAllele": "T",
          "start": 7510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718843.4:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718906.1:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3385,
          "referenceAllele": "T",
          "start": 3384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_006718845.2:c.3315T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718908.1:p.Arg1105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7599,
          "referenceAllele": "T",
          "start": 7598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542840.3:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541142.1:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7574,
          "referenceAllele": "T",
          "start": 7573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542842.3:c.7194T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541144.1:p.Arg2398="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8092,
          "referenceAllele": "T",
          "start": 8091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542843.2:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541145.1:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7695,
          "referenceAllele": "T",
          "start": 7694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542844.3:c.6315T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541146.1:p.Arg2105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6207,
          "referenceAllele": "T",
          "start": 6206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_011542845.2:c.6051T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541147.1:p.Arg2017="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8302,
          "referenceAllele": "T",
          "start": 8301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017789.2:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873278.1:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7699,
          "referenceAllele": "T",
          "start": 7698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "XM_017017790.2:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873279.1:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 708,
          "endIntronDirection": "-",
          "endIntronOffset": 21193,
          "referenceAllele": "A",
          "start": 708,
          "startIntronDirection": "-",
          "startIntronOffset": 21194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001330368.2:c.641-21194A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317297.1:n.641-21194A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 835,
          "endIntronDirection": "+",
          "endIntronOffset": 4955,
          "referenceAllele": "A",
          "start": 835,
          "startIntronDirection": "+",
          "startIntronOffset": 4954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028519",
      "geneNCBI_id": 160140,
      "geneSymbol": "C11orf65",
      "hgvs": [
        "NM_001351110.2:c.*38+4955A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338039.1:n.*38+4955A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688648"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827577602",
      "coordinates": [
        {
          "allele": "G",
          "end": 7597,
          "referenceAllele": "T",
          "start": 7596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_001351834.2:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338763.1:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688979"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825035475",
      "coordinates": [
        {
          "allele": "G",
          "end": 7509,
          "referenceAllele": "T",
          "start": 7508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NM_000051.4:c.7359T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000042.3:p.Arg2453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710791",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675843.1:c.7359T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000051.4:c.7359T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501606.1:p.Arg2453="
          },
          "RefSeq": {
            "hgvs": "NP_000042.3:p.Arg2453="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}